DNA, Chromosomes, and Cell Division
Fig. 2.1 DNA structure. Schematic representation of a DNA double helix unwound to show the complementarity of bases and the antiparallel structure of the phosphate (P) and sugar (S) backbone…
Fluorescence In Situ Hybridization (FISH)
Fig. 17.1 Schematic representation of the basic steps of the FISH procedure. Both the probe and chromosomal target are heat-denatured. Probe sequences hybridize to the complementary target sequences, and nonspecific…
Autosomal Aneuploidy
Trisomy Maternal Paternal References MI MII MI or MII Mitotic Totala MI MII MI or MII Mitotic Totala 2 4 1 6 1 13 5 5 [30] 7 2…
Instrumentation in the Cytogenetics Laboratory
Fig. 7.1 Multiprep robotic harvester. This device was designed specifically for cytogenetics laboratories, with enhancements such as automatic fixative mixing, integral fume extraction, multiple dispensing, and aspiration probes to reduce…
Prenatal Cytogenetics
Type of abnormality Total abnormalities (%) Sex chromosomes, males 47,XYY 45 (0.103) 47,XXY 45 (0.103) Other 32 (0.073) Sex chromosomes, females 45,X 6 (0.024) 47,XXX 27 (0.109) Other 9 (0.036)…
Sex Chromosomes, Sex Chromosome Disorders, and Disorders of Sex Development
Fig. 10.1 Idiograms of the X and Y chromosomes showing the pseudoautosomal regions (PAR1 and PAR2), the locations of the X-inactive-specific transcript (XIST) gene, the critical region on Xq, the…
The Essentials of Light Microscopy
Fig. 5.1 Conjugate planes in the optical microscope (cutaway). In this cutaway of a modern microscope, “image” planes are marked in black while “aperture” planes are marked in red, denoting…
Basic Cytogenetics Laboratory Procedures
Overview of cell culture and harvest Culture initiation → Culture maintenance → Cell harvest Living cells→ Sterility→ Arrest division Sterility→ Optimal temperature→ Swell cells Proper growth medium→ Optimal pH→ Fix…
Fragile X—A Family of Disorders: Changing Phenotype and Molecular Genetics
Name Location Type FRAXA Xq27.3 Rare FRAXB Xp22.31 Common FRAXC Xq22.1 Common FRAXD Xq27.3 Common FRAXE Xq28 Rare FRAXF Xq28 Rare Fig. 19.1 Appearance of FRAXA. (a) Conventional stain (Giemsa)…
Genomic Imprinting and Uniparental Disomy
Fig. 20.1 Diagrammatic representation of the imprinting process. Light-colored circles represent undermethylated genes, dark-colored circles represent hypermethylated genes. m maternally derived chromosome, pink. p paternally derived chromosome, blue. See text…
